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Fig. 2 | BMC Genomics

Fig. 2

From: Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

Fig. 2

Conservation of nsSNVs in SLC7A9 and SLC3A1 and their predicted effect on protein stability. a-d Distribution of Consurf conservation scores for nsSNVs in SLC7A9 and SLC3A1 that are either i) present in individuals with cystinuria (a and b) or ii) present in the ExAC dataset (c and d). ConSurf scores vary between 1 and 9, with 9 being highly conserved and 1 being not conserved. e-h). Effect of nsSNV on protein stability predicted by mCSM. mCSM predicts the change in Gibbs free energy (kcal/mol) negative values indicate destabilisation and positive values stabilisation

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BMC Genomics

ISSN: 1471-2164

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